Jean‐Michel Griffoin
Inserm(FR)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Mitochondrial Function and Pathology, Hearing, Cochlea, Tinnitus, Genetics, Photoreceptor and optogenetics research
Most-Cited Works
- → Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy(2000)1,421 cited
- → Mutations in RPE65 cause Leber's congenital amaurosis(1997)608 cited
- → Mutation spectrum and splicing variants in the OPA1 gene(2001)379 cited
- → Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene(1998)62 cited
- → [Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].(2000)28 cited
- → Novel Mutations inMYO7AandUSH2Ain Usher Syndrome(2005)18 cited
- → Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin(2003)5 cited
- → Different Mutations in RPE65 Are Associated with Variability in the Severity of Retinal Dystrophy(2007)4 cited
- → X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1(1999)1 cited